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Cornelius F Boerkoel

Showing results (21-30 of 134) with videos related to

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Journal of Molecular Histology|November 25, 2011
Expression profile of NSDHL in human peripheral tissuesMarie Morimoto, Christèle du Souich, Joanne Trinh, et al.
American Journal of Medical Genetics. Part A|September 4, 2023
Are CUL3 variants an underreported cause of congenital heart disease?Daniela Di Francesco, Anne Swenerton, Wenhui Laura Li, et al.
Molecular Genetics and Metabolism|July 28, 2009
Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouseDavid Cunningham, Kaitlyn Spychala, Keith W McLarren, et al.
Frontiers of Medicine|July 17, 2013
Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in ChinaXiaohong Duan, Thomas Markello, David Adams, et al.
Annals of Neurology|November 26, 2002
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutationKen Inoue, Konstantin Shilo, Cornelius F Boerkoel, et al.
Neurology. Genetics|January 3, 2024
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar SubtypeAdrienne Elbert, Katherine Dixon, Yaoqing Shen, et al.
Orphanet Journal of Rare Diseases|June 26, 2014
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disordersCristina Dias, Rosemarie Rupps, Benjamin Millar, et al.
Pediatric Transplantation|September 13, 2008
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasiaThomas Lücke, Nele Kanzelmeyer, Alireza Baradaran-Heravi, et al.
The Turkish Journal of Pediatrics|July 15, 2016
Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasiaAyşe İpek Polat, Uluç Yiş, Müge Ayanoğlu, et al.
Pediatrics|July 4, 2006
Schimke versus non-Schimke chronic kidney disease: an anthropometric approachThomas Lücke, Doris Franke, J Marietta Clewing, et al.
Pageof 14

Showing results (21-30 of 134) with videos related to

Sort By:
Pageof 14
Journal of Molecular Histology|November 25, 2011
Expression profile of NSDHL in human peripheral tissuesMarie Morimoto, Christèle du Souich, Joanne Trinh, et al.
American Journal of Medical Genetics. Part A|September 4, 2023
Are CUL3 variants an underreported cause of congenital heart disease?Daniela Di Francesco, Anne Swenerton, Wenhui Laura Li, et al.
Molecular Genetics and Metabolism|July 28, 2009
Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouseDavid Cunningham, Kaitlyn Spychala, Keith W McLarren, et al.
Frontiers of Medicine|July 17, 2013
Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in ChinaXiaohong Duan, Thomas Markello, David Adams, et al.
Annals of Neurology|November 26, 2002
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutationKen Inoue, Konstantin Shilo, Cornelius F Boerkoel, et al.
Neurology. Genetics|January 3, 2024
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar SubtypeAdrienne Elbert, Katherine Dixon, Yaoqing Shen, et al.
Orphanet Journal of Rare Diseases|June 26, 2014
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disordersCristina Dias, Rosemarie Rupps, Benjamin Millar, et al.
Pediatric Transplantation|September 13, 2008
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasiaThomas Lücke, Nele Kanzelmeyer, Alireza Baradaran-Heravi, et al.
The Turkish Journal of Pediatrics|July 15, 2016
Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasiaAyşe İpek Polat, Uluç Yiş, Müge Ayanoğlu, et al.
Pediatrics|July 4, 2006
Schimke versus non-Schimke chronic kidney disease: an anthropometric approachThomas Lücke, Doris Franke, J Marietta Clewing, et al.
Pageof 14